NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185812.3

Allele description [Variation Report for NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)]

NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)

Gene:
CD320:CD320 molecule [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
HGVS:
  • NC_000019.10:g.8305035CTC[2]
  • NC_000019.9:g.8369919_8369921del
  • NG_028124.1:g.8314GAG[2]
  • NM_001165895.2:c.143-955GAG[2]
  • NM_016579.4:c.256GAG[2]MANE SELECT
  • NP_057663.1:p.Glu88del
  • NC_000019.9:g.8369919CTC[2]
  • NC_000019.9:g.8369919_8369921del
  • NC_000019.9:g.8369919_8369921delCTC
  • NM_016579.3:c.262_264del
  • NM_016579.3:c.262_264delGAG
Protein change:
E88del
Links:
OMIM: 606475.0001; dbSNP: rs150384171
NCBI 1000 Genomes Browser:
rs150384171
Molecular consequence:
  • NM_016579.4:c.256GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001165895.2:c.143-955GAG[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238758GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 16, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000238758.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.262_264delGAG variant has been published as a pathogenic variant in association with transcobalamin II receptor defect in a patient with an abnormal newborn screening result for methylmalonic aciduria as well as in an infant with bilateral central retinal artery occlusions and hyperhomocysteinemia (Quadros et al., 2010; Karth et al., 2012). It has not been reported as a benign variant to our knowledge. However, the 1000 Genomes Project reports c.262_264delGAG was observed in 1.4% of alleles from Asian individuals and in 3.3% of alleles from individuals from Great Britain indicating that c.262_264delGAG may be a rare (benign) variant in these populations. The deletion of three nucleotides results in the loss of a single Glutamic Acid residue at amino acid position 88, denoted p.Glu88del. The loss of this amino acid has been shown to affect the function of the CD320 protein in vitro (Quadros et al., 2010). In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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